在西欧,每 18,000 例活产儿中约有 1 例胆道闭锁。[9]Chardot C. Biliary atresia. Orphanet J Rare Dis. 2006;1:28.http://ojrd.biomedcentral.com/articles/10.1186/1750-1172-1-28世界范围内,报告的活产儿胆道闭锁发病率为 5/10 万-32/1万,其中亚太地区发病率最高。女孩受累的比例略高于男孩。[9]Chardot C. Biliary atresia. Orphanet J Rare Dis. 2006;1:28.http://ojrd.biomedcentral.com/articles/10.1186/1750-1172-1-28据估计,台湾和日本活产儿胆道闭锁发病率为1.1 /10,000- 3.7 /10,000。[10]Wang SH, Chen CL, Concejero A, et al. Living donor liver transplantation for biliary atresia. Chang Gung Med J. 2007;30:103-108.http://www.ncbi.nlm.nih.gov/pubmed/17595997?tool=bestpractice.com[11]Wada H, Muraji T, Yokoi A, et al. Insignificant seasonal and geographical variation in incidence of biliary atresia in Japan: a regional survey of over 20 years. J Ped Surg. 2007;42:2090-2092.http://www.ncbi.nlm.nih.gov/pubmed/18082714?tool=bestpractice.com[12]Tiao MM, Tsai SS, Kuo HW, et al. Epidemiological features of biliary atresia in Taiwan, a national study 1996-2003. J Gastroent Hepatol. 2008;23:62-66.http://www.ncbi.nlm.nih.gov/pubmed/17725591?tool=bestpractice.com
在美国,每 8000 至 15,000 活产儿发生一例胆道闭锁,每年新增250-400例胆道闭锁患儿。[13]Schreiber RA, Kleinman RE. Genetics, immunology, and biliary atresia: an opening or a diversion? J Pediatr Gastroenterol Nutr. 1993;16:111-113.http://www.ncbi.nlm.nih.gov/pubmed/8450373?tool=bestpractice.com胆道闭锁是需要手术干预的新生儿黄疸的最常见病因,也是儿童肝移植的最常见指征。[14]Yoon PW, Bresee JS, Olney RS, et al. Epidemiology of biliary atresia: a population-based study. Pediatrics. 1997;99:376-382.http://www.ncbi.nlm.nih.gov/pubmed/9041292?tool=bestpractice.com非洲裔美国人发病率较高。[15]Sokol RJ, Mack C, Narkewicz MR, et al. Pathogenesis and outcome of biliary atresia: current concepts. J Pediatr Gastroenterol Nutr. 2003;37:4-21.http://www.ncbi.nlm.nih.gov/pubmed/12827000?tool=bestpractice.com有报道发现该病有季节性,在不同地区和国家有所不同。[16]Ayas MF, Hillemeier AC, Olson AD. Lack of evidence for seasonal variation in extrahepatic biliary atresia during infancy. J Clin Gastroenterol. 1996;22:292-294.http://www.ncbi.nlm.nih.gov/pubmed/8771425?tool=bestpractice.com[17]Caton AR, Druschel CM, McNutt LA. The epidemiology of extrahepatic biliary atresia in New York State, 1983-98. Paediatr Perinat Epidemiol. 2004;18:97-105.http://www.ncbi.nlm.nih.gov/pubmed/14996248?tool=bestpractice.com其可能的遗传机制尚不清楚;同卵双胞胎患病情况不同,但有一些散在的病例报道指出多个一级亲属同时患病,包括双胞胎在内。[18]Smith BM, Laberge JM, Schreiber R, et al. Familial biliary atresia in three siblings including twins. J Pediatr Surg. 1991;26:1331-1333.http://www.ncbi.nlm.nih.gov/pubmed/1812269?tool=bestpractice.com